Results 61 to 70 of about 20,098 (149)

A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II. [PDF]

J Enzyme Inhib Med Chem
Iacono R, Paragliola FMP, Strazzulli A, Moracci M.   +3 more
europepmc   +1 more source

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. [PDF]

Medicine (Baltimore)
Feng Q, Zhang MQ, Ba CX, Zhang YQ.
europepmc   +1 more source

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). [PDF]

Orphanet J Rare Dis
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT, MetabERN Subnetwork for Lysosomal Disorders.   +21 more
europepmc   +1 more source

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. [PDF]

Autophagy, 2012
Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.   +4 more
europepmc   +1 more source

Glycogen and Glycosylation: Friends or Foes? [PDF]

Biomolecules
Konada RSR, Osborn J, Mitra S.
europepmc   +1 more source

Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management. [PDF]

J Clin Med
Shakerdi LA.
europepmc   +1 more source

Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study. [PDF]

Front Nutr
Li D, Shi Y, Sun H, Zhang N, Su H, Li W, Zhao D, Wen B, Zhao Y.   +8 more
europepmc   +1 more source

Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches. [PDF]

Int J Mol Sci
Sharshakova A, Fattakhova A, Solovyeva V, Sufianov A, Sufianova G, Kutovoi G, Rizvanov A.   +6 more
europepmc   +1 more source

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study. [PDF]

J Inherit Metab Dis
Uçar SK, Mungan NÖ, Gökçay GF, Zeybek AÇA, Kılavuz S, Güneş S, Kardaş F, Kısa PT, Çıkı K, Yavaş AK, Kahraman AB, Çelik MY, Canda E, Kor D, Karaca M, Zübarioğlu T, Genç E, Yazıcı H, Bulut FD, Kılıç Ş, Aghakıshılı H, Karapınar FE, Burgaç E, Kıykım E, Elek A, Kardaş N, Ünal E, Karapınar TH, Albayrak M, Albayrak C, Ünüvar A, Wortmann SB, Karapınar DY.   +32 more
europepmc   +1 more source

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients. [PDF]

J Transl Med
Damiano C, Tarallo A, Strollo S, Minopoli N, Valanzano A, Assunto A, Tuzzi MR, Brunetti-Pierri N, Ballabio A, Sorrentino NC, Parenti G.   +10 more
europepmc   +1 more source